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  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top tube
  • Alternate specimens:
    DNA or saliva/assisted saliva
  • Sample requirements
  • Request a sample kit
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MED13L

Alias

MRFACD; PROSIT240; THRAP2; TRAP240L

Associated disorders

The MED13L gene is associated with autosomal dominant transposition of great arteries, dextro-looped 1 (MedGen UID: 332422).

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MED13L

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Invitae tests that include this gene:

Growth and differentiation factors provide important signals for setting up the body plan in the early embryo. The MED13L gene encodes a subunit of the Mediator complex, an important regulator of transcriptional activation downstream of these signaling factors. Mutations in this gene block gene expression and lead to cardiac malformations.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
MED13L NM_015335.4